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NM_000057.4(BLM):c.4050T>C (p.Thr1350=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 25, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003348945.2

Allele description [Variation Report for NM_000057.4(BLM):c.4050T>C (p.Thr1350=)]

NM_000057.4(BLM):c.4050T>C (p.Thr1350=)

Gene:
BLM:BLM RecQ like helicase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_000057.4(BLM):c.4050T>C (p.Thr1350=)
HGVS:
  • NC_000015.10:g.90811380T>C
  • NG_007272.1:g.99009T>C
  • NM_000057.4:c.4050T>CMANE SELECT
  • NM_001287246.2:c.4050T>C
  • NM_001287247.2:c.3657T>C
  • NM_001287248.2:c.2925T>C
  • NP_000048.1:p.Thr1350=
  • NP_000048.1:p.Thr1350=
  • NP_001274175.1:p.Thr1350=
  • NP_001274176.1:p.Thr1219=
  • NP_001274177.1:p.Thr975=
  • LRG_20t1:c.4050T>C
  • LRG_20:g.99009T>C
  • LRG_20p1:p.Thr1350=
  • NC_000015.9:g.91354610T>C
  • NM_000057.2:c.4050T>C
Molecular consequence:
  • NM_000057.4:c.4050T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001287246.2:c.4050T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001287247.2:c.3657T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001287248.2:c.2925T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004051515Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 25, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004051515.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024